Abstract
Purpose. The aim of this study was to measure lipid profiles among severe and mild familial hypercholestrolemic (FH) patients and to screen unrelated families for LDL receptor (LDLR) gene polymorphism.
Methods. Fifteen FH patients and six controls were enrolled in the study. Total cholesterol (CH), triglyceride (TG), high-density lipoprotein (HDL-cholesterol), low-density lipoprotein (LDL) and ApoB-100 levels were measured spectrophotometrically. Patients were classified clinically into severe and mild, based on lipid profile phenotype and the presence of cardiovascular manifestation at the age of disease onset. Low-density lipoprotein exon 4 receptor gene polymorphism was screened by the SSCP method.
Results. FH severe phenotype patients had significantly higher total cholesterol levels (14.34 ± 1.14) mmol/L as compared with mild FH phenotype (10.13 ± 1.23 mmol/L) and experienced earlier symptoms in the childhood (9.25 ± 3.22) years as compared with those of mild phenotype, who did not experience symptoms until the mid of the fourth decade of life (36.7 ± 5.25 years). No significant difference was found between HDL-cholesterol, LDL-cholesterol, ApoB-100 among severe FH as compared with mild FH patients. All FH pedigrees showed the autosomal dominant mode of inheritance. SSCP results showed a wide spectrum of LDL exon 4 gene polymorphism among severe and mild phenotypes, which differed from control.
Conclusions. There are statistical differences between severe and mild phenotype FH patients in total cholesterol, triglyceride and the age of biological expression among FH Jordanians. FH patients showed a wide spectrum of gene polymorphism within the LDLR exon 4 gene. These polymorphisms were different among FH families; this may be related to founder factors, such as the degree of consanguinity among FH patients’ parents and shed light on the importance of the role of genetic screening and counseling in reducing the risk of occurrence of the new severe FH phenotypes that develop severe complications early in life and need LDL aphresis, as well as on the importance of cascade screening to trace and identify people at genetic risk, using family tracing, for an early diagnosis of the mild FH phenotypes that can be treated with lipid lowering therapy and life style changes early to prevent later cardiovascular complications.
Keywords: familial hypercholesterolemia, low-density lipoprotein, receptor, homozygous, heterozygous, SSCP, Apo B-100
Downloads
Download data is not yet available.
Most read articles by the same author(s)
-
Petros Galanis,
Irene Vraka,
Aglaia Katsiroumpa,
Olga Siskou,
Olympia Konstantakopoulou,
Theodoros Katsoulas,
Theodoros Mariolis-Sapsakos,
Daphne Kaitelidou,
Attitudes toward COVID-19 Pandemic among Fully Vaccinated Individuals: Evidence from Greece Two Years after the Pandemic
,
Acta medica Lituanica: Vol. 29 No. 2 (2022): Acta medica Lituanica
-
Jurijus Makevičius,
Beata Kirstukaitė,
Renata Komiagienė,
Arūnas Želvys,
Feliksas Jankevičius,
Marius Miglinas,
Risk Factors of Chronic Kidney Disease after Partial Nephrectomy
,
Acta medica Lituanica: Vol. 29 No. 2 (2022): Acta medica Lituanica
-
Christos Damaskos,
Nikolaos Garmpis,
Anna Garmpi,
Vasiliki Epameinondas Georgakopoulou,
Alexandros Patsouras,
Georgia Sypsa,
Athanasios Syllaios,
Efstathios A. Antoniou,
Ethical Dilemma: Is it Worthwhile Operating an End-Stage Pancreatic Cancer Patient with Acute Mesenteric Artery Ischemia?
,
Acta medica Lituanica: Vol. 28 No. 2 (2021): Acta medica Lituanica
-
Dibakar Borthakur,
Rajesh Kumar,
Vidhu Dhawan,
Rima Dada,
Bilateral Renal Hilar Nutcracker Phenomenon in a Male Cadaver
,
Acta medica Lituanica: Vol. 31 No. 1 (2024): Acta medica Lituanica
-
Edita Baltruškevičienė,
Ugnius Mickys,
Tadas Žvirblis,
Rokas Stulpinas,
Teresė Pipirienė Želvienė,
Eduardas Aleknavičius,
Significance of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer patients receiving Bevacizumab: a single institution experience
,
Acta medica Lituanica: Vol. 23 No. 1 (2016)
-
Šarūnas Judickas,
Dalia Gineitytė,
Greta Kezytė,
Ernestas Gaižauskas,
Mindaugas Šerpytis,
Jūratė Šipylaitė,
Is the Trendelenburg position the only way to better visualize internal jugular veins?
,
Acta medica Lituanica: Vol. 25 No. 3 (2018)
-
Karolis Baronas,
Tautvydas Rančelis,
Aidas Pranculis,
Ingrida Domarkienė,
Laima Ambrozaitytė,
Vaidutis Kučinskas,
Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort
,
Acta medica Lituanica: Vol. 25 No. 1 (2018)
-
Jihad El Anzaoui,
COMMENTARY ON : " A Calculus “Toy” in the Bladder. A Case Report of Rare Entity and Comprehensive Review of the Literature"
,
Acta medica Lituanica: Vol. 29 No. 1 (2022): Acta medica Lituanica
-
Deb K. Boruah,
Bidyut Bikash Gogoi,
Kuntal Kanti Das,
Kalyan Sarma,
Pranjal Phukan,
Binoy Kumar Singh,
Karuna Hazarika,
Awadhesh Jaiswal,
Added value of 3D-DRIVE and SWI Magnetic Resonance Imaging Sequences in Intraventricular Neurocysticercosis (IVNCC): An Institutional Experience from Northeast India
,
Acta medica Lituanica: Vol. 28 No. 2 (2021): Acta medica Lituanica
-
Sonal Sogani,
Vandana Varma,
Purnima Dey Sarkar,
Significance of urine albumin / creatinine ratio (UACR) and uric acid in women with preeclampsia and its comparison with healthy normotensive pregnant women in their third trimester
,
Acta medica Lituanica: Vol. 21 No. 1 (2014)